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rs764493597

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs764493597(C;C)
Make rs764493597(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11128071
GeneLDLR
is asnp
is mentioned by
dbSNPrs764493597
ebirs764493597
HLIrs764493597
Exacrs764493597
Varsomers764493597
Maprs764493597
PheGenIrs764493597
hapmaprs764493597
1000 genomesrs764493597
hgdprs764493597
ensemblrs764493597
gopubmedrs764493597
geneviewrs764493597
scholarrs764493597
googlers764493597
pharmgkbrs764493597
gwascentralrs764493597
openSNPrs764493597
23andMers764493597
23andMe allrs764493597
SNP Nexus

SNPshotrs764493597
SNPdbers764493597
MSV3drs764493597
GWAS Ctlgrs764493597
Max Magnitude0
ClinVar
Risk rs764493597(C;C)
Alt rs764493597(C;C)
Reference rs764493597(T;T)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11238747T>C
CLNSRC LDLR @ LOVD
CLNACC RCV000238445.1,